Variant report

Variant	rs376383264
Chromosome Location	chr11:59435774-59435775
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HA-E2F1	chr11:59435557-59436105	MCF-7	breast:	n/a	chr11:59435971-59435978 chr11:59435967-59435979 chr11:59435970-59435979 chr11:59435971-59435978 chr11:59436068-59436077 chr11:59435971-59435978
2	POLR2A	chr11:59435690-59437363	GM18526	blood:	n/a	n/a
3	SIN3AK20	chr11:59435697-59436106	H1-hESC	embryonic stem cell:	n/a	n/a
4	STAT3	chr11:59435412-59436137	MCF10A-Er-Src	breast:	n/a	chr11:59436070-59436082
5	ZC3H11A	chr11:59435720-59436244	K562	blood:	n/a	n/a
6	ELF1	chr11:59435743-59436860	K562	blood:	n/a	chr11:59436330-59436343
7	CEBPD	chr11:59435650-59435909	HepG2	liver:	n/a	n/a
8	POLR2A	chr11:59435409-59437591	U87	brain:	n/a	n/a
9	RELA	chr11:59435755-59436243	GM19099	blood:	n/a	chr11:59435989-59435998 chr11:59435989-59435998
10	CEBPB	chr11:59435664-59435831	HepG2	liver:	n/a	chr11:59435738-59435749
11	MXI1	chr11:59435221-59438035	SK-N-SH	brain:	n/a	n/a
12	SP1	chr11:59435698-59436430	A549	lung:	n/a	chr11:59436074-59436084 chr11:59435809-59435819 chr11:59436067-59436079 chr11:59436074-59436084 chr11:59436247-59436259 chr11:59436068-59436078 chr11:59436068-59436077 chr11:59436069-59436078 chr11:59436064-59436078 chr11:59436247-59436259 chr11:59436249-59436258 chr11:59435809-59435819 chr11:59436067-59436079 chr11:59436248-59436257
13	RCOR1	chr11:59435434-59436215	HepG2	liver:	n/a	n/a
14	POLR2A	chr11:59435658-59437343	GM12878	blood:	n/a	n/a
15	NR2F2	chr11:59435644-59436168	K562	blood:	n/a	n/a
16	POLR2A	chr11:59435538-59437431	GM19099	blood:	n/a	n/a
17	POLR2A	chr11:59435629-59437329	K562	blood:	n/a	n/a
18	POLR2A	chr11:59435491-59437679	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr11:59435050-59437612	MCF10A-Er-Src	breast:	n/a	n/a
20	SIN3AK20	chr11:59435629-59436822	PANC-1	pancreas:	n/a	n/a
21	MYC	chr11:59435768-59437019	NB4	blood:	n/a	chr11:59436066-59436076
22	MAZ	chr11:59435655-59437489	K562	blood:	n/a	chr11:59436066-59436076
23	CREB1	chr11:59435569-59437585	HepG2	liver:	n/a	n/a
24	SIN3AK20	chr11:59435576-59436369	K562	blood:	n/a	n/a
25	ZKSCAN1	chr11:59435680-59436089	Hela-S3	cervix:	n/a	n/a
26	STAT3	chr11:59435537-59436132	MCF10A-Er-Src	breast:	n/a	chr11:59436070-59436082
27	POU2F2	chr11:59435678-59436280	GM12878	blood:	n/a	chr11:59435939-59435951 chr11:59436065-59436077
28	POLR2A	chr11:59435718-59437856	Raji	blood:	n/a	n/a
29	MXI1	chr11:59435463-59437624	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr11:59435614-59437673	GM18505	blood:	n/a	n/a
31	CEBPB	chr11:59435589-59435925	A549	lung:	n/a	chr11:59435738-59435749
32	CTCF	chr11:59435720-59435870	AG04449	skin:	n/a	n/a
33	POLR2A	chr11:59435049-59438055	GM12891	blood:	n/a	n/a
34	CEBPB	chr11:59435552-59435974	Hela-S3	cervix:	n/a	chr11:59435738-59435749 chr11:59435584-59435596
35	MAX	chr11:59435406-59437554	Hela-S3	cervix:	n/a	chr11:59436066-59436076
36	RELA	chr11:59435620-59436210	GM18951	blood:	n/a	chr11:59435989-59435998 chr11:59435989-59435998
37	SMARCB1	chr11:59435683-59437424	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr11:59435503-59437589	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr11:59435252-59437646	GM12892	blood:	n/a	n/a
40	POLR2A	chr11:59435566-59436266	GM12892	blood:	n/a	n/a
41	HCFC1	chr11:59435284-59437792	Hela-S3	cervix:	n/a	n/a
42	CEBPB	chr11:59435564-59435965	HepG2	liver:	n/a	chr11:59435738-59435749 chr11:59435584-59435596
43	MAX	chr11:59435669-59436191	ECC-1	luminal epithelium:	n/a	chr11:59436066-59436076
44	ELK1	chr11:59435767-59437134	GM12878	blood:	n/a	chr11:59436331-59436340 chr11:59436331-59436340
45	POLR2A	chr11:59435600-59437366	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr11:59434975-59437627	GM12878	blood:	n/a	n/a
47	MAX	chr11:59435670-59437470	K562	blood:	n/a	chr11:59436066-59436076
48	ZNF143	chr11:59435575-59435797	Hela-S3	cervix:	n/a	n/a
49	MXI1	chr11:59435471-59437585	HepG2	liver:	n/a	n/a
50	CEBPB	chr11:59435560-59435931	IMR90	lung:	n/a	chr11:59435738-59435749 chr11:59435584-59435596

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:59435773-59435823	SK-N-SH_RA	brain:	n/a
2	chr11:59435773-59435823	AG09309	skin:	n/a
3	chr11:59435773-59435823	SKMC	muscle:	n/a
4	chr11:59435773-59435823	Hepatocyte	liver:	n/a
5	chr11:59435773-59435823	SK-N-MC	brain:	n/a
6	chr11:59435773-59435823	HAEpiC	amniotic membrane:	n/a
7	chr11:59435773-59435823	NH-A	brain:	n/a
8	chr11:59435773-59435823	HNPCEpiC	eye:	n/a
9	chr11:59435773-59435823	IMR90	lung:	fetal
10	chr11:59435773-59435823	AG10803	skin:	n/a
11	chr11:59435773-59435823	SAEC	small airway:	n/a
12	chr11:59435773-59435823	ovcar-3	ovarian:	n/a
13	chr11:59435773-59435823	Jurkat	blood:	n/a
14	chr11:59435773-59435823	H1-hESC	embryonic stem cell:	embryo
15	chr11:59435773-59435823	Caco-2	colon:	n/a
16	chr11:59435773-59435823	HPAEpiC	pulmonary alveolar:	n/a
17	chr11:59435773-59435823	PFSK-1	brain:	n/a
18	chr11:59435773-59435823	NT2-D1	testis:	n/a
19	chr11:59435773-59435823	GM19239	blood:	n/a
20	chr11:59435773-59435823	SK-N-SH	brain:	n/a
21	chr11:59435773-59435823	GM06990	blood:	n/a
22	chr11:59435773-59435823	AG09319	gingival:	n/a
23	chr11:59435773-59435823	GM12892	blood:	n/a
24	chr11:59435773-59435823	BE2_C	brain:	n/a
25	chr11:59435773-59435823	HEK293	kidney:	embryo
26	chr11:59435773-59435823	AG04450	lung:	fetal
27	chr11:59435773-59435823	HRE	kidney:	n/a
28	chr11:59435773-59435823	MCF-7	breast:	n/a
29	chr11:59435773-59435823	AoSMC	blood vessel:	n/a
30	chr11:59435773-59435823	MCF10A-Er-Src	breast:	n/a
31	chr11:59435773-59435823	ProgFib	skin:	n/a
32	chr11:59435773-59435823	HUVEC	blood vessel:	n/a
33	chr11:59435773-59435823	HCF	heart:	n/a
34	chr11:59435773-59435823	HIPEpiC	eye:	n/a
35	chr11:59435773-59435823	NHBE	bronchial:	n/a
36	chr11:59435773-59435823	NB4	blood:	n/a
37	chr11:59435773-59435823	ECC-1	luminal epithelium:	n/a
38	chr11:59435773-59435823	HCT-116	colon:	n/a
39	chr11:59435773-59435823	RPTEC	kidney:	n/a
40	chr11:59435773-59435823	GM12891	blood:	n/a
41	chr11:59435773-59435823	HRCEpiC	kidney:	n/a
42	chr11:59435773-59435823	PANC-1	pancreas:	n/a
43	chr11:59435773-59435823	CMK	blood:	n/a
44	chr11:59435773-59435823	Hela-S3	cervix:	n/a
45	chr11:59435773-59435823	K562	blood:	n/a
46	chr11:59435773-59435823	HL-60	blood:	n/a
47	chr11:59435773-59435823	HCM	heart:	n/a
48	chr11:59435773-59435823	LNCaP	prostate:	n/a
49	chr11:59435773-59435823	T-47D	breast:	n/a
50	chr11:59435773-59435823	NHDF-neo	bronchial:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:59380013..59385486-chr11:59434648..59438262,9	MCF-7	breast:
2	chr11:59379597..59385439-chr11:59434812..59438230,12	K562	blood:
3	chr11:59381143..59385193-chr11:59434975..59438411,10	K562	blood:
4	chr11:59331158..59335239-chr11:59433739..59436205,3	K562	blood:
5	chr11:59331158..59335239-chr11:59432687..59436578,5	K562	blood:

Variant related genes	Relation type
ENSG00000255355	TF binding region
ENSG00000255355	CpG island
ENSG00000255139	Chromatin interaction
ENSG00000110048	Chromatin interaction
ENSG00000255008	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1802782	chr11:59383323-59448068	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv3421301	chr11:59435201-59437749	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59434400-59436000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr11:59434400-59437400	Active TSS	NHLF	lung
3	chr11:59434600-59435800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:59434600-59435800	Flanking Active TSS	NHEK	skin
5	chr11:59434600-59435800	Flanking Active TSS	Osteobl	bone
6	chr11:59434600-59436000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr11:59434600-59436000	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr11:59434600-59436000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr11:59434600-59436000	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr11:59434600-59438400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:59434800-59435800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr11:59434800-59435800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr11:59434800-59435800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr11:59434800-59435800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr11:59434800-59435800	Flanking Active TSS	Stomach Smooth Muscle	stomach
16	chr11:59434800-59436000	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr11:59434800-59436000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
18	chr11:59435000-59435800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:59435000-59435800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr11:59435000-59435800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr11:59435000-59435800	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr11:59435000-59435800	Flanking Active TSS	Fetal Heart	heart
23	chr11:59435000-59435800	Flanking Active TSS	Fetal Lung	lung
24	chr11:59435000-59435800	Enhancers	Small Intestine	intestine
25	chr11:59435000-59435800	Flanking Active TSS	HUVEC	blood vessel
26	chr11:59435000-59436000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr11:59435000-59437400	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr11:59435000-59437400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr11:59435000-59437800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr11:59435000-59437800	Active TSS	Psoas Muscle	Psoas
31	chr11:59435000-59437800	Active TSS	Right Atrium	heart
32	chr11:59435200-59435800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
33	chr11:59435200-59435800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr11:59435200-59435800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:59435200-59435800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
36	chr11:59435200-59435800	Flanking Active TSS	Brain Substantia Nigra	brain
37	chr11:59435200-59435800	Flanking Active TSS	Colon Smooth Muscle	Colon
38	chr11:59435200-59435800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr11:59435200-59435800	Flanking Active TSS	Fetal Intestine Large	intestine
40	chr11:59435200-59435800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
41	chr11:59435200-59435800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
42	chr11:59435200-59435800	Flanking Active TSS	NH-A	brain
43	chr11:59435200-59436000	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr11:59435200-59436000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr11:59435200-59436000	Flanking Active TSS	Fetal Brain Female	brain
46	chr11:59435200-59436200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:59435200-59436200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr11:59435200-59437600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr11:59435200-59437600	Active TSS	Right Ventricle	heart
50	chr11:59435200-59437800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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